ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)

dbSNP: rs104894024
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV002269818 SCV000055738 not provided Spondylocostal dysostosis 2, autosomal recessive no assertion provided literature only
OMIM RCV000007414 SCV000115330 pathogenic Spondylocostal dysostosis 3, autosomal recessive 2006-01-01 no assertion criteria provided literature only

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